Research & Literature

Predictors of Clinical Worsening in Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy: Prospective Cohort Study.

Chabriat H, Hervé D, Duering M, et al.

Stroke 2016; (47(1)):4-11 doi:10.1161/STROKEAHA.115.010696.

Novel mutation of the NOTCH3 gene in a Polish family with CADASIL.

Buczek J, Błażejewska-Hyżorek B, Cudna A, et al.

Neurologia i neurochirurgia polska 2016; (50(4)):262-4.

Recurrent transient global amnesia as presenting symptoms of CADASIL.

Pradotto L, Orsi L, Mencarelli M, et al.

Clinical case reports 2016; (4(11)):1045-1048 doi:10.1002/ccr3.666.

Cardiovascular Events, Conditions, and Procedures Among People With Episodic Migraine in the US Population: Results from the American Migraine Prevalence and Prevention (AMPP) Study.

Buse DC, Reed ML, Fanning KM, et al.

Headache 2017; (57(1)):31-44 doi:10.1111/head.12962.

Cerebral Microbleeds, Hypertension, and Intracerebral Hemorrhage in Cerebral Autosomal-Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy.

Lee JS, Ko K, Oh JH, et al.

Frontiers in neurology 2017; (8()):203 doi:10.3389/fneur.2017.00203.

CADASIL.

Wang MM

Handbook of clinical neurology 2018; (148()):733-743 doi:10.1016/B978-0-444-64076-5.00047-8.

Genetic analysis of adult leukoencephalopathy patients using a custom-designed gene panel.

Kunii M, Doi H, Ishii Y, et al.

Clinical genetics 2018; (94(2)):232-238 doi:10.1111/cge.13371.

The role of clinical and neuroimaging features in the diagnosis of CADASIL.

Bersano A, Bedini G, Markus HS, et al.

Journal of neurology 2018; (265(12)):2934-2943 doi:10.1007/s00415-018-9072-8.

Role of NOTCH3 Mutations in the Cerebral Small Vessel Disease Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy.

Coupland K, Lendahl U, Karlström H

Stroke 2018; (49(11)):2793-2800 doi:10.1161/STROKEAHA.118.021560.

Apathy is associated with large-scale white matter network disruption in small vessel disease.

Tay J, Tuladhar AM, Hollocks MJ, et al.

Neurology 2019; (92(11)):e1157-e1167 doi:10.1212/WNL.0000000000007095.

Diffuse Tract Damage in CADASIL Is Correlated with Global Cognitive Impairment.

Ban S, Wang H, Wang M, et al.

European neurology 2019; (81(5-6)):294-301 doi:10.1159/000501612.

ER stress and Rho kinase activation underlie the vasculopathy of CADASIL.

Neves KB, Harvey AP, Moreton F, et al.

JCI insight 2019; (4(23)).

CADASIL presenting as late-onset mania with anosognosia.

Uppal M, Kanellopoulos D, Kotbi N

Clinical case reports 2020; (8(1)):47-50 doi:10.1002/ccr3.2594.

Homozygous NOTCH3 p.R587C mutation in Chinese patients with CADASIL: a case report.

He R, Li H, Sun Y, et al.

BMC neurology 2020; (20(1)):72 doi:10.1186/s12883-020-01660-0.

Clinical presentation of Y189C mutation of the NOTCH3 gene in the Polish family with CADASIL.

Dorszewska J, Kowalska M, Grzegorski T, et al.

Folia neuropathologica 2020; (58(1)):83-92 doi:10.5114/fn.2020.94009.

Novel dot-blot assay for detection of vascular Notch3 aggregates in patients with CADASIL.

Ma Y, Ueda M, Ueda A, et al.

Journal of the neurological sciences 2020; (415()):116931 doi:10.1016/j.jns.2020.116931.

The INECO Frontal Screening for the Evaluation of Executive Dysfunction in Cerebral Small Vessel Disease: Evidence from Quantitative MRI in a CADASIL Cohort from Colombia.

Schoemaker D, Zuluaga Y, Viswanathan A, et al.

Journal of the International Neuropsychological Society : JINS 2020; (26(10)):1006-1018 doi:10.1017/S1355617720000533.

Cerebral Microbleed Burdens in Specific Brain Regions Are Associated With Disease Severity of Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy.

Chung CP, Chen JW, Chang FC, et al.

Journal of the American Heart Association 2020; (9(13)):e016233 doi:10.1161/JAHA.120.016233.

Ataxia Associated with CADASIL: a Pathology-Confirmed Case Report and Literature Review.

Park DG, Min JH, Sohn SH, et al.

Cerebellum (London, England) 2020; (19(6)):907-910 doi:10.1007/s12311-020-01173-z.

Top-NOTCH3 Variants in the Population at Large.

Kalaria RN, Kittner SJ

Stroke 2020; (51(12)):3482-3484 doi:10.1161/STROKEAHA.120.031609.

Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) - Still to be Considered in the Presence of Vascular Risk Factors.

Ganesan DN, Coste T, Venketasubramanian N

Case reports in neurology 2020; (12(Suppl 1)):196-201 doi:10.1159/000507542.

Stem Cell Factor in Combination With Granulocyte Colony-Stimulating Factor Protects the Brain From Capillary Thrombosis-Induced Ischemic Neuron Loss in a Mouse Model of CADASIL.

Ping S, Qiu X, Gonzalez-Toledo ME, et al.

Frontiers in cell and developmental biology 2020; (8()):627733 doi:10.3389/fcell.2020.627733.

Intracerebral Hemorrhage in Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy: Prevalence, Clinical and Neuroimaging Features and Risk Factors.

Liao YC, Hu YC, Chung CP, et al.

Stroke 2021; (52(3)):985-993 doi:10.1161/STROKEAHA.120.030664.

Neuropsychiatric symptoms associated with cerebral small vessel disease: a systematic review and meta-analysis.

Clancy U, Gilmartin D, Jochems ACC, et al.

The lancet. Psychiatry 2021; (8(3)):225-236 doi:10.1016/S2215-0366(20)30431-4.

Heterozygous Cysteine-sparing NOTCH3 Variant p.Val237Met in a Japanese Patient with Suspected Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy.

Kano Y, Mizuta I, Ueda A, et al.

Internal medicine (Tokyo, Japan) 2021; (60(15)):2479-2482 doi:10.2169/internalmedicine.6096-20.

NOTCH3 variants are more common than expected in the general population and associated with stroke and vascular dementia: an analysis of 200 000 participants.

Cho BPH, Nannoni S, Harshfield EL, et al.

Journal of neurology, neurosurgery, and psychiatry 2021; (92(7)):694-701 doi:10.1136/jnnp-2020-325838.

Lasmiditan: an additional therapeutic option for the acute treatment of migraine.

Martinelli D, Bitetto V, Tassorelli C

Expert review of neurotherapeutics 2021; (21(5)):491-502 doi:10.1080/14737175.2021.1912599.

Notch3 Signaling and Aggregation as Targets for the Treatment of CADASIL and Other NOTCH3-Associated Small-Vessel Diseases.

Schoemaker D, Arboleda-Velasquez JF

The American journal of pathology 2021; (191(11)):1856-1870 doi:10.1016/j.ajpath.2021.03.015.

Specific Abnormalities in White Matter Pathways as Interface to Small Vessels Disease and Cognition in Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy Individuals.

Jacobs HIL, Schoemaker D, Torrico-Teave H, et al.

Brain connectivity 2022; (12(1)):52-60 doi:10.1089/brain.2020.0980.

Cadasil syndrome: A case report with a literature review.

Lahkim M, Laamrani FZ, Andour H, et al.

Radiology case reports 2021; (16(11)):3540-3543 doi:10.1016/j.radcr.2021.08.023.

First report of a homozygous mutation on exon 24 of the NOTCH3 gene in a paucisymptomatic CADASIL elderly patient.

Ragno M, Pianese L, Tiberi S, et al.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2022; (43(2)):1457-1458 doi:10.1007/s10072-021-05706-0.

Lasmiditan: Acute Migraine Treatment Without Vasoconstriction. A Review.

Beauchene JK, Levien TL

The Journal of pharmacy technology : jPT : official publication of the Association of Pharmacy Technicians 2021; (37(5)):244-253 doi:10.1177/87551225211024630.

NOTCH3 mutations in a cohort of Portuguese patients within CADASIL spectrum phenotype.

Almeida MR, Elias I, Fernandes C, et al.

Neurogenetics 2022; (23(1)):1-9 doi:10.1007/s10048-021-00679-w.

R558C NOTCH3 Mutation in a CADASIL Patient with Intracerebral Hemorrhage: A Case Report with Literature Review.

Hu L, Liu G, Fan Y

Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association 2022; (31(7)):106541 doi:10.1016/j.jstrokecerebrovasdis.2022.106541.

Imaging Characteristics for Predicting Cognitive Impairment in Patients With Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy.

Taniguchi A, Shindo A, Tabei KI, et al.

Frontiers in aging neuroscience 2022; (14()):876437 doi:10.3389/fnagi.2022.876437.

Detection of Vascular Notch3 Deposits in Unfixed Frozen Skin Biopsy Sample in CADASIL.

Ueda A, Nakajima M, Misumi Y, et al.

Frontiers in neurology 2022; (13()):881528 doi:10.3389/fneur.2022.881528.

Occurrence of Intracranial Hemorrhage and Associated Risk Factors in Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy: A Systematic Review and Meta-Analysis.

Lai QL, Zhang YX, Wang JJ, et al.

Journal of clinical neurology (Seoul, Korea) 2022; (18(5)):499-506 doi:10.3988/jcn.2022.18.5.499.

Mechanisms regulating cerebral hypoperfusion in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.

Yan X, Shang J, Wang R, et al.

Journal of biomedical research 2022; (36(5)):353-357 doi:10.7555/JBR.36.20220208.

Recurrent generalized seizures as the prominent manifestation in a patient with CADASIL: a case report and literature review.

Pan L, Chen Y, Zhao S

BMC neurology 2022; (22(1)):375 doi:10.1186/s12883-022-02889-7.

Update on the Epidemiology, Pathogenesis, and Biomarkers of Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy.

Yamamoto Y, Liao YC, Lee YC, et al.

Journal of clinical neurology (Seoul, Korea) 2023; (19(1)):12-27 doi:10.3988/jcn.2023.19.1.12.

Headache: Treatment update.

Ogunlaja OI, Goadsby PJ

eNeurologicalSci 2022; (29()):100420 doi:10.1016/j.ensci.2022.100420.

Acute bilateral multiple subcortical infarcts as manifestation in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.

Huang H, Xie W, Hu F, et al.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2023; (44(12)):4391-4399 doi:10.1007/s10072-023-06949-9.

Pathogenesis and therapeutic advances of cerebral autosomal- dominant arteriopathy with subcortical infarcts and leukoencephalopathy.

Zhang Y, Wu ZY

Yi chuan = Hereditas 2023; (45(7)):568-579 doi:10.16288/j.yczz.23-023.

Lifelong cerebrovascular disease burden among CADASIL patients: analysis from a global health research network.

Pan AP, Potter T, Bako A, et al.

Frontiers in neurology 2023; (14()):1203985 doi:10.3389/fneur.2023.1203985.

Management of Inherited CNS Small Vessel Diseases: The CADASIL Example: A Scientific Statement From the American Heart Association.

Meschia JF, Worrall BB, Elahi FM, et al.

Stroke 2023; (54(10)):e452-e464 doi:10.1161/STR.0000000000000444.

Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL) Syndrome: A Case Report and Review of Literature.

Gutierrez Gomez C, Lopez Gonzalez MDA, Vazquez Tobias AN, Rivera Chávez JG

Cureus 2024; (16(2)):e53469 doi:10.7759/cureus.53469.

Pro-Hemorrhagic Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy Associated with NOTCH3 p.R75P Mutation with Low Vascular NOTCH3 Aggregation Property.

Ishiyama H, Kim H, Saito S, et al.

Annals of neurology 2024; (95(6)):1040-1054 doi:10.1002/ana.26916.

Blood vessel organoids generated by base editing and harboring single nucleotide variation in Notch3 effectively recapitulate CADASIL-related pathogenesis.

Ahn Y, An JH, Yang HJ, et al.

Molecular neurobiology 2024; (61(11)):9171-9183 doi:10.1007/s12035-024-04141-4.

Long-Term Treatment with the Calcitonin Gene-Related Peptide Receptor Antagonist Erenumab in CADASIL: Two Case Reports.

Albanese M, Pescini F, Di Bonaventura C, et al.

Journal of clinical medicine 2024; (13(7)) doi:10.3390/jcm13071870.

[The hereditary vessel disease CADASIL].

Sveinsson OA, Arkink EB, Thors B

Laeknabladid 2024; (110(7)):360-364 doi:10.17992/lbl.2024.0708.801.

Most common NOTCH3 mutations causing CADASIL or CADASIL-like cerebral small vessel disease: A systematic review.

Boston G, Jobson D, Mizuno T, et al.

Cerebral circulation - cognition and behavior 2024; (6()):100227 doi:10.1016/j.cccb.2024.100227.

Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL) in a 32-Year-Old Male Presenting With a Transient Ischemic Attack (TIA).

Karim R, Malik M, Cheema H, et al.

Cureus 2024; (16(10)):e70970 doi:10.7759/cureus.70970.

Intracerebral hemorrhage in CADASIL.

Hsu SL, Liao YC, Chung CP, et al.

Journal of the Chinese Medical Association : JCMA 2025; (88(3)):189-195 doi:10.1097/JCMA.0000000000001206.

[Treatment-refractory chronic depression in a CADASIL patient with a symptom-free somatic course: a case report].

Wurthmann S, Kastrup O, Wurthmann C, et al.

Fortschritte der Neurologie-Psychiatrie 2025; (93(7-08)):306-310 doi:10.1055/a-2512-7605.

Generation of a human iPSC line with Notch3 R133C mutation by CRISPR/Cas9: A tool for investigating CADASIL and therapeutic targets.

Aygar S, Daheron L

Stem cell research 2025; (84()):103678 doi:10.1016/j.scr.2025.103678.

CADASIL Syndrome Presenting as Obsessive-Compulsive Disorder: A Case Report.

Canlı D, Keskin M

Noro psikiyatri arsivi 2025; (62(1)):90-93 doi:10.29399/npa.28683.

Hereditary Haemorrhagic Cerebrovascular Disease: Implications for Clinical Management.

Hou W, Hou Y, Ren X, Liu J

Annals of neurosciences 2025; 09727531241308346 doi:10.1177/09727531241308346.

Intracerebral Hemorrhage in Patients With CADASIL: Additive Impact of the NOTCH3 R544C Variant and Hypertension?

Chen CH, Cheng YW, Zhang R, et al.

Stroke 2025; (56(8)):2159-2166 doi:10.1161/STROKEAHA.124.050484.

The role of NOTCH3 in CADASIL pathogenesis: insights into novel therapies.

Felix-Ilemhenbhio F, Kocsy K, Azzouz M, Majid A

Brain research 2025; (1863()):149754 doi:10.1016/j.brainres.2025.149754.

CADASIL or NOTCH3 mutaion spectrum diseases? Interpretation of NOTCH3 mutations and clinical heterogeneity in CADASIL.

Wang Y, Liu Y, Mo H, et al.

Frontiers in neurology 2025; (16()):1662012 doi:10.3389/fneur.2025.1662012.

Rimegepant for acute treatment of migraine in triptan-unsuitable adults: A randomized, double-blind, placebo-controlled phase 4 trial.

Ashina M, McAllister P, Gaul C, et al.

Cephalalgia : an international journal of headache 2025; (45(11)):3331024251395298 doi:10.1177/03331024251395298.

The Spectrum of NOTCH3 Variants in an Australian CADASIL Cohort.

Guyler SK, Tsai J, Maksemous N, et al.

Genes 2025; (16(11)) doi:10.3390/genes16111353.